Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Authors
Katherine M Wilson, Eszter Katona, Idoia Glaria, Mireia Carcolé, Imogen J Swift, Aitana Sogorb-Esteve, Carolin Heller, Arabella Bouzigues, Amanda J Heslegrave, Ashvini Keshavan, Kathryn Knowles, Saurabh Patil, Susovan Mohapatra, Yuanjing Liu, Jaya Goyal, Raquel Sanchez-Valle, Robert Jr Laforce, Matthis Synofzik, James B Rowe, Elizabeth Finger, Rik Vandenberghe, Christopher R Butler, Alexander Gerhard, John C Van Swieten, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Alexandre de Mendonça, Mario Masellis, M Carmela Tartaglia, Markus Otto, Caroline Graff, Simon Ducharme, Jonathan M Schott, Andrea Malaspina, Henrik Zetterberg, Ramakrishna Boyanapalli, Jonathan D Rohrer, Adrian M Isaacs,
A GGGGCC repeat expansion in the C9orf72 gene is the most common cause of genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). As potential therapies targeting the repeat expansion are now entering clinical trials, sensitive biomarker assays of target engagement are urgently required. Our objective was to develop such an assay.
Head of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center for Neurology, University of Tübingen
